Home > Specialties > Reagents, Molecular Assay, Gene Anomaly, Mutation, SPAST

Reagents, Molecular Assay, Gene Anomaly, Mutation, SPAST

Definition : Molecular assay reagents intended to identify mutations in the spastin (SPAST) gene, located at chromosome 2p24-p21, which encodes for a protein that is involved many cell activities, including membrane transport, intracellular motility, organelle biogenesis, protein folding, and proteolysis. This inherited genetic mutation has been identified in patients with hereditary spastic paraplegia type 4 (SPG4).

Entry Terms : "Spastin Type Hereditary Spastic Paraplegia Gene Mutation Reagents" , "Hereditary Spastic Paraplegia Type 4 (SPG4) Gene Mutation Reagents" , "Hereditary Spastic Paraplegia Gene Mutation Reagents" , "Familial Spastic Paraplegia Gene Mutation Reagents" , "SPAST Gene Mutation Detection Reagents"

UMDC code : 24976

   

No results at this time.